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intellectual disability, X-linked - psychosis - macroorchidism

Orpha number ORPHA3077
Synonym(s) Lindsay-Burn syndrome
PPM-X
Prevalence <1 / 1 000 000
Inheritance
  • X-linked dominant
Age of onset Childhood
ICD-10
  • F71.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).


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